整合结构变异调查中的挑战与标准
Challenges and standards in integrating surveys of structural variation.
作者信息
Scherer Stephen W, Lee Charles, Birney Ewan, Altshuler David M, Eichler Evan E, Carter Nigel P, Hurles Matthew E, Feuk Lars
机构信息
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14-701, Ontario M5G 1L7, Canada.
出版信息
Nat Genet. 2007 Jul;39(7 Suppl):S7-15. doi: 10.1038/ng2093.
Abstract
There has been an explosion of data describing newly recognized structural variants in the human genome. In the flurry of reporting, there has been no standard approach to collecting the data, assessing its quality or describing identified features. This risks becoming a rampant problem, in particular with respect to surveys of copy number variation and their application to disease studies. Here, we consider the challenges in characterizing and documenting genomic structural variants. From this, we derive recommendations for standards to be adopted, with the aim of ensuring the accurate presentation of this form of genetic variation to facilitate ongoing research.
摘要
描述人类基因组中新发现的结构变异的数据呈爆炸式增长。在大量的报告中，没有标准的方法来收集数据、评估其质量或描述已识别的特征。这有可能成为一个猖獗的问题，尤其是在拷贝数变异调查及其在疾病研究中的应用方面。在这里，我们考虑了表征和记录基因组结构变异所面临的挑战。据此，我们得出了应采用的标准建议，目的是确保这种遗传变异形式的准确呈现，以促进正在进行的研究。
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